Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2465 | 7618;7619;7620 | chr2:178773663;178773662;178773661 | chr2:179638390;179638389;179638388 |
| N2AB | 2465 | 7618;7619;7620 | chr2:178773663;178773662;178773661 | chr2:179638390;179638389;179638388 |
| N2A | 2465 | 7618;7619;7620 | chr2:178773663;178773662;178773661 | chr2:179638390;179638389;179638388 |
| N2B | 2419 | 7480;7481;7482 | chr2:178773663;178773662;178773661 | chr2:179638390;179638389;179638388 |
| Novex-1 | 2419 | 7480;7481;7482 | chr2:178773663;178773662;178773661 | chr2:179638390;179638389;179638388 |
| Novex-2 | 2419 | 7480;7481;7482 | chr2:178773663;178773662;178773661 | chr2:179638390;179638389;179638388 |
| Novex-3 | 2465 | 7618;7619;7620 | chr2:178773663;178773662;178773661 | chr2:179638390;179638389;179638388 |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs1469271059  |
-1.181 | 0.999 | N | 0.491 | 0.409 | 0.323615622048 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs941805455 |
None | 0.999 | D | 0.571 | 0.576 | 0.517104213562 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs941805455 |
None | 0.999 | D | 0.571 | 0.576 | 0.517104213562 | gnomAD-4.0.0 | 5.12291E-06 | None | None | None | None | N | None | 0 | 3.39018E-05 | None | 0 | 0 | None | 0 | 0 | 2.39198E-06 | 0 | 2.84236E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5005 | ambiguous | 0.5212 | ambiguous | -0.769 | Destabilizing | 0.999 | D | 0.667 | neutral | D | 0.602644617 | None | None | N |
| E/C | 0.9785 | likely_pathogenic | 0.9804 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| E/D | 0.4708 | ambiguous | 0.4731 | ambiguous | -1.255 | Destabilizing | 0.999 | D | 0.491 | neutral | N | 0.50810223 | None | None | N |
| E/F | 0.9678 | likely_pathogenic | 0.9693 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/G | 0.6536 | likely_pathogenic | 0.6707 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.706599293 | None | None | N |
| E/H | 0.9138 | likely_pathogenic | 0.9245 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| E/I | 0.8433 | likely_pathogenic | 0.8488 | pathogenic | 0.226 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/K | 0.8033 | likely_pathogenic | 0.8197 | pathogenic | -0.685 | Destabilizing | 0.999 | D | 0.571 | neutral | D | 0.549810519 | None | None | N |
| E/L | 0.887 | likely_pathogenic | 0.8939 | pathogenic | 0.226 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| E/M | 0.8829 | likely_pathogenic | 0.8919 | pathogenic | 0.639 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| E/N | 0.785 | likely_pathogenic | 0.7989 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| E/P | 0.9937 | likely_pathogenic | 0.9946 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| E/Q | 0.4495 | ambiguous | 0.4719 | ambiguous | -1.001 | Destabilizing | 1.0 | D | 0.632 | neutral | D | 0.546945021 | None | None | N |
| E/R | 0.8768 | likely_pathogenic | 0.8888 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| E/S | 0.5535 | ambiguous | 0.5771 | pathogenic | -1.428 | Destabilizing | 0.999 | D | 0.616 | neutral | None | None | None | None | N |
| E/T | 0.6329 | likely_pathogenic | 0.6551 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/V | 0.6467 | likely_pathogenic | 0.6623 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.564749102 | None | None | N |
| E/W | 0.9922 | likely_pathogenic | 0.9929 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| E/Y | 0.9551 | likely_pathogenic | 0.9588 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.